- Tytuł:
- Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.
- Autorzy:
- Źródło:
- Indian journal of ophthalmology [Indian J Ophthalmol] 2018 Feb; Vol. 66 (2), pp. 229-232.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Family*
Frameshift Mutation*
Aniridia/*genetics
DNA/*genetics
PAX6 Transcription Factor/*genetics
Adult ; Aniridia/metabolism ; Child ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; Genotype ; Humans ; India ; Male ; PAX6 Transcription Factor/metabolism ; Pedigree ; Phenotype
Czasopismo naukowe